Condition: Cerebellar atrophy


rs1555817157 in ABHD12 gene and Cerebellar atrophy PMID 29571850 2018 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

rs779027563 in CNTNAP1 gene and Cerebellar atrophy PMID 27668699 2017 Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

rs869320624 in EMC1-AS1;EMC1 gene and Cerebellar atrophy PMID 26942288 2016 Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.

PMID 27657687 2017 Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

rs672601368 in KIF1A gene and Cerebellar atrophy PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.

rs1555789140 in OVOL2;MGME1;SNX5 gene and Cerebellar atrophy PMID 28711739 2017 Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia.

rs63750687 in PSEN1 gene and Cerebellar atrophy PMID 24121961 2014 A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.

rs752298579 in TANGO2 gene and Cerebellar atrophy PMID 26805781 2016 Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.

rs863223953 in YARS2;DNM1L gene and Cerebellar atrophy PMID 26604000 2016 DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.

PMID 27145208 2016 A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.